banner
Genes Phenotypes Help, News, Blog

Gene: Gad1 MGI:95632

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
glutamate decarboxylase 1
Synonyms:
GAD25,  Gad-1,  EP10,  GAD67,  GAD44,  Z49976

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gad1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gad1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Long philtrum, Neo... OMIM:619124

The table below shows human diseases predicted to be associated to Gad1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Perching Syndrome
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia OMIM:617055
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Uvula, Bifid
Bifid uvula OMIM:192100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intes... OMIM:251850
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
2q33.1 deletion syndrome
Inguinal hernia, High palate, Cleft palate DECIPHER:51
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Trehalase Deficiency
Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d... ORPHA:103909
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Cleft Soft Palate
Cleft soft palate OMIM:119570
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting ORPHA:313906
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Chronic Hiccup
Malnutrition, Dehydration, Abnormal eating behavior ORPHA:396
Ehlers-Danlos Syndrome, Periodontal Type, 2
Inguinal hernia, Atypical scarring of skin, Gingival fragility, Periodontitis, Gingival bleeding,... OMIM:617174
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... ORPHA:137935
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... ORPHA:103907
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Inguinal hernia, Accessory oral frenulum ORPHA:1373
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Pierre Robin Syndrome
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... OMIM:261800
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug... ORPHA:330012
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate OMIM:258320
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Hyperekplexia 4
Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica... OMIM:618011
Glycosylphosphatidylinositol Biosynthesis Defect 11
Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia OMIM:616025
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... OMIM:620045
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific... ORPHA:1302
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... ORPHA:2004
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties OMIM:616341
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting, Dehydration OMIM:610370
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir... OMIM:616726
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As... ORPHA:2902
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Gingival bleeding OMIM:606893
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... OMIM:619445
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention, Elevated circulating alkaline phosphatase concentration OMIM:174050
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth ORPHA:2901
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties OMIM:610992
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Dehydration OMIM:614265
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... OMIM:616974
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Wide mouth, Umbilical hernia, Downturned corners of mouth, High, narrow palate OMIM:273390
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth ORPHA:2016
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Ch... OMIM:620233
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Adiposis Dolorosa
Abdominal distention, Constipation, Painful subcutaneous lipomas OMIM:103200
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Increased circulating lactate dehydrog... ORPHA:254361
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Muscular Hypertonia, Lethal
Umbilical hernia OMIM:254120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Erythema, Dehydration, Urticaria, Polydipsia ORPHA:47045
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... OMIM:605809
Isolated Pierre Robin Syndrome
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate ORPHA:718
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Feeding difficulties, High palate, Neonatal ... OMIM:300219
Thyroid Hemiagenesis
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95719
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia OMIM:617732
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Auriculocondylar Syndrome 2A
Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma... OMIM:614669
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Feedi... ORPHA:137914
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Polydipsia ORPHA:178029
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Hernia ORPHA:75497
Fetal Minoxidil Syndrome
Umbilical hernia ORPHA:1918
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Vomiting, Decreased liver function, Dehydration OMIM:602199
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd... OMIM:606824
Porphyria Due To Ala Dehydratase Deficiency
Abnormal circulating enzyme concentration or activity, Restlessness, Abdominal pain, Abnormal ery... ORPHA:100924
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... ORPHA:95427
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower... OMIM:620321
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Enteric Anendocrinosis
Diarrhea, Vomiting, Dehydration, Malabsorption ORPHA:83620
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia, Macroglossia OMIM:275100
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu... ORPHA:79127
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi... OMIM:612292
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er... OMIM:614608
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Prod... ORPHA:454836
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Dysphagia, Cough, Abnormal pattern of res... ORPHA:77260
Severe X-Linked Mitochondrial Encephalomyopathy
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... ORPHA:238329
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Thyroid Dyshormonogenesis 1
Macroglossia, Umbilical hernia OMIM:274400
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Neonatal respirato... OMIM:615042
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... ORPHA:2257
Inflammatory Skin And Bowel Disease, Neonatal, 2
Secretory diarrhea, Vomiting, Polyhydramnios, Dehydration OMIM:616069
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, High palate, Long philtrum, Umbilical hernia, Smooth p... OMIM:613544
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... ORPHA:226313
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth OMIM:246560
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Hypoglossia With Situs Inversus
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi... OMIM:612776
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... ORPHA:411703
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi... OMIM:619611
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... ORPHA:254864
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,... OMIM:615834
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, E... ORPHA:79457
Letterer-Siwe Disease
Abdominal distention, Jaundice, Dyspnea, Pulmonary infiltrates, Stomatitis OMIM:246400
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... ORPHA:2414
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... OMIM:613662
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t... OMIM:600325
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis, Tented upper lip vermilion, Tracheomalacia ORPHA:896
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary... ORPHA:36238
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Arthrogryposis mult... OMIM:201550
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Combined Oxidative Phosphorylation Deficiency 47
Long philtrum, Dehydration, Dysphagia OMIM:618958
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstructi... OMIM:613490
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Open mouth, Short philtrum, Abnormal oral cavity morphology ORPHA:1516
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... ORPHA:92050
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo... ORPHA:199241
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Umbilical hernia ORPHA:2349
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Dehydration, Nasogastric tube feeding ORPHA:289504
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate OMIM:217150
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Wide mo... ORPHA:137834
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Anorexia, Abdomin... ORPHA:100085
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, ... OMIM:608104
Reticular Dysgenesis
Diarrhea, Dehydration, Malabsorption ORPHA:33355
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Dehydration, Death in childhood, Thin ver... OMIM:214150
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow palate, Plantar... ORPHA:2872
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Adams-Oliver Syndrome 4
Umbilical hernia OMIM:615297
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Anorexia, Abdominal pain, Dehydration, Feeding difficulties ORPHA:79312
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Umbilical hernia, High, narrow palate ORPHA:2181
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Aarskog-Scott Syndrome
Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality... ORPHA:915
Restrictive Dermopathy 2
Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gas... OMIM:619793
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... OMIM:234810
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrop... ORPHA:298
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... OMIM:620265
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Nar... ORPHA:352490
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Malignant Peritoneal Mesothelioma
Dyspnea, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Dehydration ORPHA:28
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Respiratory insufficiency OMIM:600972
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... ORPHA:100057
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Recurrent respiratory infections, Protuberant abdomen, Death in infancy OMIM:277300
Congenital Disorder Of Glycosylation, Type Iy
Wide mouth, Widely spaced teeth, Respiratory distress, Feeding difficulties OMIM:300934
Qazi-Markouizos Syndrome
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... ORPHA:3010
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... ORPHA:100050
Nipah Virus Disease
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough ORPHA:99825
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Increased circulating lactate dehydrogenase ... ORPHA:319213
Distal Xq28 Microduplication Syndrome
Predominantly lower limb lymphedema, Short lingual frenulum, Dental crowding, Aggressive behavior... ORPHA:293939
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
Autosomal Agammaglobulinemia
Sinusitis, Malabsorption, Diarrhea, Dehydration, High palate ORPHA:33110
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... ORPHA:254875
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Chronic constipation OMIM:300676
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting ORPHA:464453
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Feeding difficulties in i... OMIM:613070
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis ORPHA:2476
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo... ORPHA:2290
Ovarian Fibroma
Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain ORPHA:314473
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Achondrogenesis
Umbilical hernia, Inguinal hernia, Long philtrum ORPHA:932
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... ORPHA:90051
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea OMIM:240200
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Dehydration, Vomiting ORPHA:35710
Breath-Holding Spells
Cyanosis OMIM:607578
Imagawa-Matsumoto Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly OMIM:618786
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:333
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... ORPHA:142
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, High palate ORPHA:1035
Folinic Acid-Responsive Seizures
Respiratory distress, Abdominal distention, Apnea ORPHA:79097
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Diarrhea, Feeding difficulties, Aminoaciduria, Vomiting OMIM:612075
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck OMIM:300580
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Dehydration, Death in adolescence, Vomiting, Death in childhood OMIM:560000
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... ORPHA:85443
Lujan-Fryns Syndrome
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... ORPHA:776
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Vomiting, Aggressive behavior OMIM:237310
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Elevated circulating aspartate aminotransferase concentration, ... OMIM:257200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness, Respiratory dist... OMIM:613561
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Umbilical hernia, Inguinal hernia ORPHA:2196
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Vomiting, Dehydration OMIM:264350
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Solar Urticaria
Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De... ORPHA:97230
Rin2 Syndrome
Irregular dentition, Gingival overgrowth, Abnormal lip morphology, High palate, Long philtrum, Um... ORPHA:217335
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress ORPHA:2140
Achondrogenesis Type 1B
Umbilical hernia, Femoral hernia, Long philtrum ORPHA:93298
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Tented upper lip vermilion, Diastasis recti, High palate, Short philtru... OMIM:616579
Congenital Heart Block
Cyanosis, Feeding difficulties in infancy, Pericardial effusion, Hydrops fetalis, Peripheral edem... ORPHA:60041
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Umbilical hern... OMIM:612938
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... ORPHA:75233
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Abnormal circulating enzyme concentration or activity, Orthopnea, Bowel inc... ORPHA:365
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula, Midline central nervous system lipomas OMIM:155145
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ... ORPHA:60033
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Atrophic... OMIM:130080
Achondrogenesis Type 1A
Umbilical hernia, Femoral hernia, Long philtrum ORPHA:93299
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate, Aggressive behavior ORPHA:85279
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Shigellosis
Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe... ORPHA:810
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia, Feedin... OMIM:616733
Esophageal Atresia
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... ORPHA:1199
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate, Cleft upper lip OMIM:613885
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abdomin... OMIM:618528
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Intellectual Developmental Disorder, Autosomal Dominant 43
Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N... OMIM:616977
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Cleft palate ORPHA:1770
Mirizzi Syndrome
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... ORPHA:521219
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth... OMIM:618529
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Death in infancy, Hypertyrosinemia, Abdomina... OMIM:617156
Axenfeld-Rieger Syndrome, Type 2
Inguinal hernia, Anal stenosis, Short philtrum, Everted lower lip vermilion, Hypodontia, Microdon... OMIM:601499
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Cystinosis
Malabsorption, Dehydration, Vomiting, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Atelectasis, Respiratory insuffi... ORPHA:258
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Elevated circulating aspartate aminotransferase concentr... OMIM:278000
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Dehydration, Feeding difficulties OMIM:177735
Snijders Blok-Campeau Syndrome
Inguinal hernia, Taurodontia, Widely spaced teeth, High palate, Umbilical hernia, Enamel hypoplasia OMIM:618205
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Inguinal hernia, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Malaria
Nausea and vomiting, Respiratory distress ORPHA:673
Thyroid Hypoplasia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95720
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties... OMIM:620278
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon... ORPHA:133
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, High, narrow palate, Abnormal oral frenulum morphology, Narrow m... ORPHA:2496
Pelger-Huet Anomaly
Umbilical hernia, Abnormality of the dentition, Median cleft palate, Gingival overgrowth OMIM:169400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d... OMIM:618426
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Bladder Exstrophy
Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm... ORPHA:93930
Silver-Russell Syndrome Due To 11P15 Microduplication
Umbilical hernia ORPHA:231144
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Harlequin Ichthyosis
Eclabion, Self-injurious behavior, Dehydration ORPHA:457
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre... OMIM:211530
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Dehydration OMIM:602722
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal dist... ORPHA:2131
Isovaleric Acidemia
Vomiting, Dehydration OMIM:243500
Hypercalcemia, Infantile, 1
Vomiting, Dehydration OMIM:143880
Corticosterone Methyloxidase Type I Deficiency
Feeding difficulties in infancy, Vomiting, Dehydration OMIM:203400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... ORPHA:90003
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Luo-Schoch-Yamamoto Syndrome
Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion border, Short philtrum, Nar... OMIM:619460
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia OMIM:304800
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Long philtrum ORPHA:90653
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:95717
Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Flexion contracture ORPHA:87876
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis OMIM:601492
Intestinal Botulism
Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,... ORPHA:178481
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Downturned corners of mouth, Arthrogryposis-like hand anomaly, Macroglossia, Wide mouth, High pal... ORPHA:369891
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Elevated gamma-gl... ORPHA:100086
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2143
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, High palate, Recurrent acute respiratory tract inf... OMIM:620011
Encephalopathy, Ethylmalonic
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae OMIM:602473
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Abdominal distention ORPHA:369
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A... ORPHA:330015
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Inguinal hernia, Pursed lips, Elbow flexion contracture, Knee flexion contractur... OMIM:616266
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:615595
Joint Laxity, Short Stature, And Myopia
Umbilical hernia, Inguinal hernia OMIM:617662
Houge-Janssens Syndrome 3
Umbilical hernia, Inguinal hernia, High palate, Short philtrum OMIM:618354
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respirat... OMIM:269860
Opitz Gbbb Syndrome
Anal atresia, Inguinal hernia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ... OMIM:300000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... ORPHA:927
Schisis Association
Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Tracheoes... ORPHA:63862
Double Outlet Right Ventricle
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... ORPHA:3426
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Death in infancy, Abdominal distention, Pulmonary lymphangiectasia, Alv... OMIM:235255
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Dehydration OMIM:620126
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout... OMIM:616638
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia ORPHA:93950
Zygomycosis
Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col... ORPHA:73263
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux, Apnea ORPHA:1949
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, High palate, Congenital diaphragmatic hernia ORPHA:284180
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Lipoatrophy, Tooth agenesis, Everted lower lip vermilion, Um... ORPHA:2963
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Feeding difficulties ORPHA:26792
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Pyloric stenosis, Rectal prolapse, Recurrent pneum... OMIM:613177
Propionic Acidemia
Poor appetite, Feeding difficulties in infancy, Dehydration, Constipation, Vomiting OMIM:606054
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ... ORPHA:308552
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Dehydration OMIM:212140
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Thin vermilion border, Long philtrum ORPHA:171839
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Dehydration OMIM:251120
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Micrognathia, Cyanotic epis... ORPHA:284417
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... ORPHA:90060
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni... ORPHA:343
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou... ORPHA:3260
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors OMIM:618737
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... ORPHA:330021
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Micrognathia, Jaundice, Dehydration, Oligohydramnios OMIM:208085
Diaphanospondylodysostosis
Respiratory distress, Cleft palate ORPHA:66637
Cirrhosis, Familial
Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... OMIM:215600
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties OMIM:620203
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera... OMIM:230900
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Cleft pal... ORPHA:2311
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Hereditary Hyperekplexia
Umbilical hernia, Esophagitis, Hernia, Hiatus hernia ORPHA:3197
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Deep philtrum, High ... OMIM:255800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Dental crowding, Persistence of primary teeth, Hiatus hernia OMIM:619769
Beta-Ketothiolase Deficiency
Anorexia, Edema, Diarrhea, Dehydration, Vomiting, Agitation, Oral aversion ORPHA:134
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Dyspnea, Feeding difficulties, Wide mouth, Abnormal up... ORPHA:2707
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Umb... ORPHA:329224
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... OMIM:620275
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas... ORPHA:538
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Feeding difficult... ORPHA:79113
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties OMIM:619239
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Increased circulat... ORPHA:93552
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... ORPHA:2759
Achondrogenesis, Type Ii
Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Protuberant ... OMIM:200610
Intellectual Disability, Buenos-Aires Type
Abnormal dental morphology, Open bite, Dental malocclusion, High palate, Umbilical hernia ORPHA:3079
Acute Intermittent Porphyria
Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Restlessness, Abdomin... ORPHA:79276
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary... OMIM:136760
Auriculocondylar Syndrome
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... ORPHA:137888
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona... ORPHA:3392
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Feeding diffi... OMIM:105830
Chiari Malformation Type Ii
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia OMIM:207950
Multiple Benign Circumferential Skin Creases On Limbs
Umbilical hernia, Inguinal hernia, Cleft palate, Long philtrum ORPHA:2505
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia OMIM:618272
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Restlessness, Cyanosis, Gastrointestinal d... ORPHA:391428
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Neo... ORPHA:98915
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure OMIM:261680
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Feeding difficulties in infancy, Deep philtrum, Gingivitis, Aminoaciduria, Perio... ORPHA:534
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placenta, Flexion c... ORPHA:254528
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... ORPHA:2038
Cantu Syndrome
Thick lower lip vermilion, Gingival overgrowth, Long philtrum, Umbilical hernia, Thick upper lip ... OMIM:239850
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Dehydration ORPHA:27
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Elevated circulating aspartate aminotransferase concentratio... OMIM:227810
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention... OMIM:619580
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum ORPHA:261295
Congenital Fibrinogen Deficiency
Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo... ORPHA:335
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Feeding difficulties OMIM:143860
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus, Neoplasm of the lung ORPHA:83469
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal distention, Jaundic... ORPHA:469
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Thin vermilion border, Short philtrum, Feeding difficulties ORPHA:261304
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Polyhydramnios, Micrognathia, Nasogastric tube feeding in infancy, Gastroesoph... ORPHA:93316
Tatton-Brown-Rahman Syndrome
Everted upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Thin vermilion border, Umbil... OMIM:615879
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted... ORPHA:85321
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd... OMIM:617102
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand OMIM:175700
Agnathia-Otocephaly Complex
Respiratory distress, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Tracheomalacia,... OMIM:202650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Large placenta, Umbilical hernia, Diastasis recti ORPHA:254534
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain ORPHA:168816
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Hydrops fetalis, Dehydratio... OMIM:557000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... OMIM:106260
Cholera
Miscarriage, Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Abdominal cramps, Vomiting, Pal... ORPHA:173
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum ORPHA:93945
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Feeding d... OMIM:620157
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness OMIM:300266
Early-Onset Familial Hypoaldosteronism
Vomiting, Dehydration, Feeding difficulties ORPHA:556030
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea... ORPHA:210136
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... ORPHA:51890
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Recurrent intrapulmonary... ORPHA:183
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Recurrent respirat... ORPHA:329178
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Dend Syndrome
Downturned corners of mouth, Vomiting, Dehydration, Long philtrum ORPHA:79134
Meckel Syndrome 14
Microretrognathia, Cyanosis, Micrognathia, Abdominal distention, Increased nuchal translucency, P... OMIM:619879
Hydrolethalus
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilater... ORPHA:2189
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Feeding diffi... OMIM:619383
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Pulmonary hypoplasia, Cleft palate ORPHA:85166
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Carious teeth, Velopha... OMIM:129400
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Feeding difficulties OMIM:615597
Distal Deletion 19P
Vaginal hernia, Cleft palate, Umbilical hernia, Short philtrum, Keloids ORPHA:96129
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema OMIM:617300
Familial Visceral Myopathy
Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:2604
Nager Syndrome
Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla... ORPHA:245
Velocardiofacial Syndrome
Inguinal hernia, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence... OMIM:192430
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Lamellar Ichthyosis
Everted lower lip vermilion, Dehydration, Abnormality of the dentition ORPHA:313
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla... OMIM:309520
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... ORPHA:1876
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Generalized aminoaciduria, Vomiting, Pulmonary hypoplasia, Neonat... OMIM:231680
Chylomicron Retention Disease
Elevated hepatic transaminase, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabso... ORPHA:71
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, High palate, Micrognathia ORPHA:3304
Buerger Disease
Acrocyanosis ORPHA:36258
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor... ORPHA:537
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m... ORPHA:192
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:348
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Tachypnea, Respiratory distress ORPHA:45452
Vipoma
Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr... ORPHA:97282
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Polyhydramnios, Dehydration OMIM:214700
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Feeding difficulties in... ORPHA:314655
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Inguinal hernia, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosis, Atrophic scars,... OMIM:225410
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti... ORPHA:1307
Nephrotic Syndrome, Type 1
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention OMIM:256300
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Micrognathia, Trismus, Dehydration, Feeding difficulties, Tube feeding OMIM:616271
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Dysphagia, Everted lower lip vermilion,... OMIM:608013
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Respiratory distress, High, narrow palate, Telangiectasia, Smooth ... OMIM:608799
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... ORPHA:275761
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain, Increased... ORPHA:370348
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Icf Syndrome
Macroglossia, Umbilical hernia, Malabsorption, Protruding tongue ORPHA:2268
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Atypical scarring of skin, Atrophic scars, High palate, Cellulit... OMIM:618000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Carious teeth, Atelectasis, Respir... ORPHA:536467
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Poor suck ORPHA:1145
Amish Lethal Microcephaly
Death in infancy, Feeding difficulties, Cleft soft palate, Micrognathia ORPHA:99742
Amme Complex
Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Diastasis recti OMIM:300194
Bronchial Neuroendocrine Tumor
Pneumonia, Poor appetite, Anorexia, Bowel urgency, Nonproductive cough, Dyspnea, Asthma, Wheezing... ORPHA:97287
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I... OMIM:604377
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting ORPHA:677
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Respiratory distress, Portal hypertension, Esophageal varix, Respi... ORPHA:367
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Cleft upper lip, High palate, Narrow mouth, Umbilica... OMIM:612582
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Aggressive behavior, Hypoplasia of the maxilla, Feeding difficulties, Thin vermilion border, High... ORPHA:481152
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1488
Fg Syndrome Type 1
Inguinal hernia, Progressive flexion contractures, Dental crowding, Abnormal large intestine morp... ORPHA:93932
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Diarrhea, Tachypnea, Respiratory insufficiency, Fe... OMIM:618278
Ovarian Fibrothecoma
Abdominal distention, Pleural effusion, Abdominal pain ORPHA:314478
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Jaundice, Dysp... ORPHA:160
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... OMIM:614299
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagia OMIM:620166
Distal Deletion 3P
Inguinal hernia, Cleft palate, Downturned corners of mouth, Thin vermilion border, High palate, L... ORPHA:1620
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Amin... OMIM:220110
Pseudo-Torch Syndrome 1
Umbilical hernia, Cleft lip, High palate, Long philtrum OMIM:251290
Primary Dystonia, Dyt4 Type
Respiratory distress, Movement abnormality of the tongue, Open mouth, Dysphagia ORPHA:98805
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hyperactivity, Asthma, Wide mouth, Protuberant abdomen, Long philtrum, Open ... ORPHA:457485
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Hypernatremic dehydration, Anorexia, Polyhydramnios, Feeding difficulties, C... ORPHA:223
Roifman-Chitayat Syndrome
Umbilical hernia, Thin lower lip vermilion OMIM:613328
Scarf Syndrome
Inguinal hernia, Diastasis recti, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcifi... ORPHA:3134
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough, Abdominal pain ORPHA:86812
Macs Syndrome
Irregular dentition, Gingival overgrowth, High palate, Thick vermilion border, Recurrent aphthous... OMIM:613075
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, High palate OMIM:614520
Intellectual Developmental Disorder, Autosomal Dominant 48
Umbilical hernia, Open mouth OMIM:617751
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Recurrent respiratory infections, Hypoperistalsis OMIM:619365
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Umbilical ... ORPHA:261652
Moebius Syndrome
Respiratory distress, Abnormality of the dentition, Feeding difficulties in infancy, High palate,... OMIM:157900
Trisomy 20P
Inguinal hernia, Camptodactyly of finger, Spina bifida, Abnormality of the dentition, Downturned ... ORPHA:261318
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Restlessness, Micrognathia, Hypop... OMIM:300534
Netherton Syndrome
Urticaria, Dehydration, Malabsorption ORPHA:634
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Recurrent infections due to aspiration, Diarrhea, Hypogeusia, El... OMIM:223900
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate OMIM:619122
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, High, narrow palate, Sh... OMIM:216550
Fanconi-Bickel Syndrome
Elevated circulating aspartate aminotransferase concentration, Abdominal distention, Elevated cir... ORPHA:2088
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Feeding difficulties ORPHA:1143
Lateral Meningocele Syndrome
Inguinal hernia, Dental crowding, High, narrow palate, Meningocele, High palate, Umbilical hernia... ORPHA:2789
Kniest Dysplasia
Hip contracture, Umbilical hernia, Inguinal hernia, Cleft palate OMIM:156550
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, High palate, Pulmonary hypoplas... ORPHA:3309
Intellectual Developmental Disorder, Autosomal Dominant 58
Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig... OMIM:618106
Lateral Meningocele Syndrome
Inguinal hernia, Dental crowding, Meningocele, Cleft palate, Umbilical hernia, High palate, Long ... OMIM:130720
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Knee flexion contracture ORPHA:166016
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Elevated circulating aspartate aminotransferase conc... OMIM:256810
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios OMIM:263200
Juvenile Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93399
Generalized Pseudohypoaldosteronism Type 1
Feeding difficulties in infancy, Vomiting, Dehydration ORPHA:171876
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Dental crowding, Anal stenosis, Intestinal malrotat... OMIM:305450
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Hurler-Scheie Syndrome
Inguinal hernia, Camptodactyly of finger, Contracture of the distal interphalangeal joint of the ... OMIM:607015
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum OMIM:619142
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vo... OMIM:212750
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Evert... OMIM:614753
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Cigarette-paper scars, Irregularly spaced teeth, Umbilical hernia, Bowel diverti... OMIM:130000
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Edema, Reye syndrome-like episodes, Diarrhea, Jaundice, Dehydration, Episodic vomiting ORPHA:20
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, High palate, Feeding difficulties OMIM:218000
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Umbilical hernia, Smooth philtrum ORPHA:1778
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Umbilical hernia, Open mouth ORPHA:500159
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea, Pulmonary edema ORPHA:64739
Oromandibular Dystonia
Respiratory distress, Abnormal lip morphology, Bruxism, Dysphagia ORPHA:93958
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Feeding difficulties, Dysphagia ORPHA:89844
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Sialuria
Thin upper lip vermilion, Macroglossia, High palate, Protuberant abdomen, Long philtrum, Attentio... OMIM:269921
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Wolcott-Rallison Syndrome
Acute hepatic failure, Jaundice, Dehydration, Ascites, Exocrine pancreatic insufficiency ORPHA:1667
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Bifid uvula, Cleft palate, Feeding difficulties OMIM:606164
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, High palate, Thick vermili... OMIM:618651
Eosinophilic Fasciitis
Muscular edema, Acrocyanosis, Edema ORPHA:3165
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Tachypnea, Respiratory distress, Anorexia ORPHA:79242
Necrotizing Enterocolitis
Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting ORPHA:391673
Dent Disease 2
Umbilical hernia OMIM:300555
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cleft palate, Narrow palate, Anteriorly placed anus, Tooth agenesis, Narrow mouth, Umbilical hernia ORPHA:1555
Cutis Laxa, Autosomal Recessive, Type Iiia
Umbilical hernia, Inguinal hernia, Narrow mouth OMIM:219150
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Feeding difficulties, Gastr... OMIM:613805
Myotonic Dystrophy 1
Feeding difficulties in infancy, Obsessive-compulsive trait, Respiratory distress, Dysphagia OMIM:160900
Chand Syndrome
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... ORPHA:1401
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Hypoplastic frontal sinuse... ORPHA:560
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia ORPHA:95716
Goodpasture Syndrome
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO... OMIM:233450
Relapsing Polychondritis
Dyspnea, Atelectasis, Erythema, Hepatitis, Anteriorly placed anus, Recurrent aphthous stomatitis,... ORPHA:728
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion, Head-banging, Wide... OMIM:619103
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Vomiting, Dehydration OMIM:615453
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee flexion contracture, Dis... OMIM:114300
Hyperekplexia 1
Umbilical hernia, Inguinal hernia OMIM:149400
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Respiratory distress ORPHA:166272
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... ORPHA:141127
Autosomal Recessive Multiple Pterygium Syndrome
Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, A... ORPHA:2990
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Petechiae ORPHA:51188
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Death in infancy, Death in childhood OMIM:619423
Chromosome 18Q Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Cleft upper lip, Cleft palate, Downturned corners of m... OMIM:601808
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow ORPHA:2662
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Dehydration OMIM:251000
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroeso... OMIM:619950
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Feeding difficulties, Hypodontia, Gastrostomy tube feeding in... ORPHA:544503
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Persistence of primary teeth, H... OMIM:170390
Schilbach-Rott Syndrome
Micrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth... OMIM:164220
Odontochondrodysplasia 1
Delayed eruption of teeth, Respiratory distress, Recurrent respiratory infections, Death in infan... OMIM:184260
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Abnormality of the dentition OMIM:617952
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Cleft palate, Pulmonary hypoplasia, Protuberant ... OMIM:608022
Paternal Uniparental Disomy Of Chromosome 6
Micrognathia, Gingival overgrowth, Dehydration, Macroglossia, High palate, Retrognathia, Oligohyd... ORPHA:96191
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Carious teeth, Dyspnea, Xerostomi... ORPHA:220393
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology ORPHA:93262
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Abdominal distention, Pulmonary lymphangiectasia, Alveolar ridge overgr... ORPHA:1655
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Interstitial Lung And Liver Disease
Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated circulating alan... OMIM:615486
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepati... ORPHA:159
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Feeding difficulties OMIM:617239
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Progeroid facial appearance OMIM:608154
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Diarrhea, Peritonitis, Rectal prolapse, Colonic stenosis,... ORPHA:90038
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Decreased activity of NADPH oxidase, Rectal ab... OMIM:306400
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, High palate... OMIM:208050
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Umbilical hernia, Inguinal hernia ORPHA:3218
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Immunodeficiency 49
Umbilical hernia, Short philtrum, Natal tooth OMIM:617237
Primary Biliary Cholangitis
Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Hepatitis, Gastrointestinal ... ORPHA:186
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Downt... ORPHA:177907
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Oligomeganephronia
Branchial cyst, Polydipsia, Dehydration, Micrognathia ORPHA:2260
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Inguinal hernia, Intestinal pseudo-obstruction, Flexion contracture, T... OMIM:309900
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla OMIM:618302
Schneckenbecken Dysplasia
Umbilical hernia, Cleft palate OMIM:269250
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Wide mouth, Umbilical hernia, Median pseudocleft lip OMIM:619758
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tac... ORPHA:26793
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Long uvula, Tooth malposition, Narrow pal... ORPHA:536532
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Narrow mouth, Rectal prolapse, Spina bifida occulta, Gingival overgrow... OMIM:235510
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding di... ORPHA:1329
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties... ORPHA:314679
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide mouth, Umbilical hernia, Inguinal hernia, Long philtrum ORPHA:1292
Tetanus
Respiratory distress, Bowel incontinence, Abdominal pain, Tachypnea, Dysphagia ORPHA:3299
Thanatophoric Dysplasia, Type I
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia, Protuberant abdomen OMIM:187600
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Osteogenesis Imperfecta, Type Xiii
Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum OMIM:614856
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress, A... ORPHA:31826
8Q22.1 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Submucous cleft hard palate, Abnormality of the dentition ORPHA:178303
Gorlin-Chaudhry-Moss Syndrome
Umbilical hernia, Oligodontia, Abnormality of the dentition ORPHA:2095
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Prominent superficial veins, Pyloric stenosis,... ORPHA:363705
Carpenter Syndrome 1
Omphalocele, Persistence of primary teeth, Spina bifida occulta, Agenesis of permanent teeth, Hig... OMIM:201000
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Abdominal pain, Intestinal perforation, Diffuse alveolar h... ORPHA:90068
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... OMIM:257850
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Lung abscess, Abdominal pain, Dyspnea, Gas... ORPHA:67
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Narrow mouth, Flex... OMIM:265000
Crouzon Syndrome
Hypoplasia of the maxilla, Narrow palate ORPHA:207
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border, Congenital diaphragmatic hernia ORPHA:250999
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Abnormal lung lobation, Short philtrum, Gastroesophageal reflux,... ORPHA:567
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Branchioskeletogenital Syndrome
Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate... ORPHA:1299
Donohue Syndrome
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth OMIM:246200
Congenital Sialidosis Type 2
Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue ORPHA:93400
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Inguinal hernia, Tented upper lip vermilion, Cleft soft pala... OMIM:615582
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Exaggerated cupid's bow, Wide mouth, Macroglossia, High palate, Umbilical hernia OMIM:614501
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Polyhydramnios, Micrognathia, Carious teeth, Cleft lip, Pierre-... OMIM:117650
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... OMIM:612863
Dravet Syndrome
Obsessive-compulsive trait, Cyanotic episode, Impulsivity ORPHA:33069
Stt3B-Cdg
Respiratory distress, Feeding difficulties ORPHA:370924
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Inguinal hernia OMIM:252900
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy, Dysphagia, Wide mo... ORPHA:251061
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Angioedema, Urticaria, Recurrent infection of the gas... OMIM:256500
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Hyperactivity, Neonatal respiratory distr... ORPHA:209905
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Feeding difficulties in infancy, Erythema, Multiple gastric polyps... OMIM:225750
Thyroid Ectopia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95712
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Protuberant abdomen OMIM:151210
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharyngeal insufficiency, ... OMIM:614701
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Inguinal hernia, Joint contracture of the 4th finger, Joint contracture of the ... OMIM:618914
Microsporidiosis
Sinusitis, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Dehydration, Vomiting, Interm... ORPHA:2552
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia ORPHA:95715
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Spin... ORPHA:2092
Aarskog-Scott Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Cleft palate, Curved linear dimple below the lower li... OMIM:305400
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... ORPHA:1798
Methylmalonic Aciduria, Cblb Type
Feeding difficulties in infancy, Vomiting, Dehydration OMIM:251110
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Feeding difficulties, Hypoxemia, Submucous cleft soft palate ORPHA:2282
Autosomal Recessive Robinow Syndrome
Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Ab... ORPHA:1507
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Cleft palate OMIM:184250
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Adams-Oliver Syndrome 5
Umbilical hernia, Inguinal hernia, Esophageal varix OMIM:616028
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum ORPHA:228396
Kasabach-Merritt Syndrome
Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura ORPHA:2330
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Umbilical hernia, Bilateral camptodactyly, Smooth philtrum, Oligodontia OMIM:619234
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia ORPHA:782
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Acrocyanosis, Long philtrum OMIM:614407
Opitz Gbbb Syndrome
Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft lip, Tracheoeso... ORPHA:2745
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Intestinal malrotation, Orofacial cleft, Cleft palate, Narrow mouth, ... ORPHA:2166
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Cleft li... OMIM:618454
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Deep philtrum, Widely-spaced maxillary central incisors ORPHA:404443
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hypoventilation, Cyanosis, Central hypoventilation, Aggressive beh... ORPHA:293987
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Cleft soft palate, Short philtrum, Retrognathia, Smooth philtrum, Oligohydramnios ORPHA:293725
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he... OMIM:115470
3Mc Syndrome
Diastasis recti, Orofacial cleft, Downturned corners of mouth, Umbilical hernia, Spina bifida occ... ORPHA:293843
Wilson Disease
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abdominal d... OMIM:277900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Respiratory distress ORPHA:289916
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pericardial effusion, Feeding difficulties, Macroglossia, Anasarca, Peripheral edema, P... OMIM:261740
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, High, narrow palate, Elbow flexion contracture, Knee flexion contracture, High pala... OMIM:613776
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, Feeding d... ORPHA:193
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... ORPHA:1830
Gapo Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Long philtrum, Umbilical hernia, Abnormal... ORPHA:2067
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Feeding difficulties ... ORPHA:438216
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Aggressive behavior, Feeding difficulties, Wide mouth, Self... ORPHA:2896
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula OMIM:619314
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... ORPHA:2241
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pyloric stenosis, Downturned corners of mouth, Thin vermilion bo... ORPHA:1001
Scarf Syndrome
Inguinal hernia, Diastasis recti, Long philtrum, Umbilical hernia, Enamel hypoplasia OMIM:312830
Treacher-Collins Syndrome
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... ORPHA:861
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:601390
Criss-Cross Heart
Cyanosis, Respiratory insufficiency, Feeding difficulties ORPHA:1461
Developmental And Epileptic Encephalopathy 95
Inguinal hernia, Multiple joint contractures, Deep philtrum, Gingival overgrowth, Macroglossia, W... OMIM:618143
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Feeding difficulties... ORPHA:87
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... OMIM:608670
Tolchin-Le Caignec Syndrome
Diastasis recti, Submucous cleft hard palate, High palate, Narrow mouth, Umbilical hernia OMIM:618971
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... ORPHA:439822
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Carpenter Syndrome
Umbilical hernia ORPHA:65759
9P13 Microdeletion Syndrome
Umbilical hernia, High palate ORPHA:324313
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Abdominal pain, Respiratory tract infection, Diarrhea... ORPHA:36234
Brittle Cornea Syndrome 2
Umbilical hernia, Inguinal hernia OMIM:614170
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate OMIM:614261
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hydrops fetalis, Dehydration, Feeding difficulties, Stomatitis, Glossitis, Smooth philtrum ORPHA:79282
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hemate... ORPHA:340
Oculodentodigital Dysplasia
Median cleft lip, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of p... ORPHA:2710
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Generalized aminoaciduria, Elevated circulating alkaline phosphatase c... OMIM:264700
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... ORPHA:2588
Absence Of The Pulmonary Artery
Orthopnea, Abnormal pulmonary thoracic imaging finding, Cyanosis, Recurrent respiratory infection... ORPHA:980
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Feeding difficulties, Narrow ... OMIM:613804
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Bowel incontinence, Respiratory failure, Gastroesophageal re... OMIM:616482
Hurler Syndrome
Inguinal hernia, Flexion contracture, Gingival overgrowth, Macroglossia, Thick vermilion border, ... OMIM:607014
Pearson Syndrome
Median cleft lip and palate, Hepatic failure, Chronic diarrhea, Hydrops fetalis, Steatorrhea, Deh... ORPHA:699
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Cyanosis, Short lingual frenulum, Cleft palate ORPHA:2326
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth ORPHA:2412
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... OMIM:209885
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia, Long philtrum OMIM:617895
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Pedal edema ORPHA:439
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Feeding difficulties, Advanced eruption of ... ORPHA:2309
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia ORPHA:2756
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Smith-Lemli-Opitz Syndrome
Dental crowding, Gastrointestinal dysmotility, Abnormal lung lobation, Vomiting, Gastroesophageal... OMIM:270400
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia OMIM:222448
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, High palate OMIM:104350
Native American Myopathy
Cleft palate, Downturned corners of mouth, Congenital contracture, High palate, Camptodactyly, Su... ORPHA:168572
Catel-Manzke Syndrome
Inguinal hernia, Cleft upper lip, Narrow mouth, Pierre-Robin sequence, Cleft palate, Glossoptosis... OMIM:616145
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Aggressive behavior, Dysphagia ORPHA:488627
Endove Syndrome, Limb-Brain Type
Umbilical hernia OMIM:619218
Renal Hypoplasia
Polydipsia, Dehydration ORPHA:93101
Methylmalonic Aciduria, Cbla Type
Feeding difficulties in infancy, Vomiting, Dehydration OMIM:251100
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return ORPHA:860
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Camptodactyly of finger, High, narrow palate, Long philtrum, Umbilical hernia ORPHA:1101
Genetic Transient Congenital Hypothyroidism
Macroglossia, Umbilical hernia ORPHA:226316
Inhalational Anthrax
Respiratory distress, Dyspnea, Vomiting ORPHA:247257
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Edema, Esophageal stricture, Malnutritio... ORPHA:79404
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch OMIM:616462
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2780
Rodrigues Blindness
Ectodermal dysplasia, Tooth malposition, Nasal flaring OMIM:268320
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting, Dehydration ORPHA:230
Mgat2-Cdg
Respiratory distress, Dental crowding, Reduced level of N-acetylglucosaminyltransferase II, Gastr... ORPHA:79329
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth ORPHA:950
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Downturned corners of mouth, Respiratory fail... ORPHA:3015
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Kagami-Ogata Syndrome
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Long philtrum, Retrognathia OMIM:608149
Pyruvate Carboxylase Deficiency
Anorexia, Dehydration, Vomiting, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand f... ORPHA:3008
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:101600
Geroderma Osteodysplasticum
Mandibular prognathia, Progeroid facial appearance, Hypoplasia of the maxilla, Neonatal wrinkled ... OMIM:231070
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Thick lower lip vermilion, Cleft palate, W... OMIM:280000
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, Inguinal hernia, Flexion contracture, High palate OMIM:222765
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... OMIM:301040
Endove Syndrome, Limb-Only Type
Umbilical hernia OMIM:619217
Autosomal Dominant Robinow Syndrome
Inguinal hernia, Median cleft lip and palate, Femoral hernia, Camptodactyly of finger, Open bite,... ORPHA:3107
Distal Renal Tubular Acidosis
Poor appetite, Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia ORPHA:18
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Gingival overgrowth, Cl... OMIM:213980
Cantú Syndrome
Wide mouth, Umbilical hernia, Thick vermilion border, Long philtrum ORPHA:1517
Infantile Nephropathic Cystinosis
Constipation, Polydipsia, Vomiting, Dehydration ORPHA:411629
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... ORPHA:37553
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Aggressive behavior, T... ORPHA:404448
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Dental malocclusion, Narrow palate, High palate, Minimal subcutaneous fat, Campt... OMIM:182212
Cystic Fibrosis
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Dehydration, Steatorrhea, Chronic sinusitis, Ex... OMIM:219700
Colchicine Poisoning
Diarrhea, Vomiting, Nausea, Dehydration ORPHA:31824
Episodic Ataxia Type 1
Respiratory distress, Nausea ORPHA:37612
Mucopolysaccharidosis, Type Vii
Recurrent upper respiratory tract infections, Gingival overgrowth, Macroglossia, Widely spaced te... OMIM:253220
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia OMIM:606851
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Atrophic scars, Umbilical hernia OMIM:614557
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... ORPHA:2751
Tarp Syndrome
Cyanosis, Apnea, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Pu... ORPHA:2886
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:123500
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Recurrent respiratory infections, Gastritis,... ORPHA:37042
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Respiratory distress, Recurrent respiratory infections, Abnormality of the denti... OMIM:300968
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Enamel hypomineralization, Dehydration, Vomiting, Polydipsia ORPHA:47159
Neuroleptic Malignant Syndrome
Dehydration, Vomiting, Agitation, Dysphagia, Nausea, Nasogastric tube feeding ORPHA:94093
De Barsy Syndrome
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Small, conical teeth, High palate, Nar... ORPHA:2962
Martsolf Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, High palate, Short phil... OMIM:212720
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Downturned corners of mout... OMIM:135500
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2554
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den... OMIM:180700
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Scarring, Protruding tongue, Deep philtrum, Gingival overgrowth, Narrow pal... ORPHA:99843
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Elevated circulating alkaline phosphatase concentration... OMIM:277440
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xero... ORPHA:1051
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Elevated... OMIM:619351
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Feeding difficulties in infancy, Esophageal atresia, Deep philtrum, Cleft p... OMIM:610536
Hereditary Spherocytosis
Abdominal distention, Jaundice, Abdominal pain ORPHA:822
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Inguinal hernia, Widened atrophic scar, High, narrow palate, Elbow flexion contracture, Atypical ... ORPHA:1900
Epidermolysis Bullosa Simplex With Pyloric Atresia
Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Skin fragility with non-... ORPHA:158684
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... ORPHA:2250
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:219100
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Recurrent pneumonia, Recurrent upper respiratory ... OMIM:607143
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:615546
Myasthenia Gravis
Dyspnea, Acrocyanosis, Hepatitis, Dysphagia ORPHA:589
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Elevated circulating creatinine concentration, Prolonged neonatal... OMIM:274150
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Umb... ORPHA:77301
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Fibrochondrogenesis 1
Narrow mouth, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum OMIM:228520
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Feeding difficulties in infancy, Gingival overgrowth, Narrow p... OMIM:123790
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Gingival ... OMIM:268310
Hypomandibular Faciocranial Dysostosis
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, M... ORPHA:1790
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Aggressive behavior, Submucous cleft hard palate, Downturned corners of... OMIM:619680
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hyperactivity, Malabsorption, Abnormality of the dentition, A... ORPHA:581
Infantile Krabbe Disease
Respiratory distress, Abnormal circulating enzyme concentration or activity, Nasogastric tube fee... ORPHA:206436
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Progeroid facial appearance, Livedo reticularis, D... OMIM:620370
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Feeding difficulties in infancy, Respiratory insufficiency, Re... OMIM:252010
Neu-Laxova Syndrome 2
Edema, Micrognathia, Polyhydramnios, Cleft palate, High palate, Protuberant abdomen OMIM:616038
Martin-Probst Syndrome
Wide mouth, Umbilical hernia, Thick lower lip vermilion, Dental malocclusion OMIM:300519
Robinow Syndrome
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... ORPHA:97360
Craniofrontonasal Syndrome
Congenital diaphragmatic hernia, Abnormality of the dentition, Cleft upper lip, Cleft palate, Umb... OMIM:304110
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Micrognathia, Feeding difficulties in infancy, Open bite, Abnormality of the dent... OMIM:115150
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Chronic constipation, High palate,... ORPHA:79330
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Polyhydramnios, Micrognathi... OMIM:300990
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Supernumerary tooth,... ORPHA:800
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Acquired Purpura Fulminans
Hepatic failure, Acrocyanosis, Macular purpura ORPHA:49566
Marburg Hemorrhagic Fever
Anorexia, Abdominal pain, Aggressive behavior, Jaundice, Odynophagia, Diarrhea, Dehydration, Bloo... ORPHA:99826
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, High palate OMIM:619272
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chr... ORPHA:457279
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Inguinal hernia, Protruding tongue, High palate, Umbilical hernia OMIM:617062
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cleft lip, Cleft palate, Thick vermilion border, Everted lower lip vermilion, Umbilical hernia, O... OMIM:301066
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Prominent superficial veins, Prematurely aged appearance, Micrognathia... OMIM:601812
Stickler Syndrome, Type I
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... OMIM:108300
Familial Renal Glucosuria
Dehydration ORPHA:69076
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:90791
Q Fever
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Anorexia, Hepatitis, Abnormal pul... ORPHA:781
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:17
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... OMIM:305100
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Nasogas... ORPHA:268943
Nicolaides-Baraitser Syndrome
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, High, narrow palate, Thick low... OMIM:601358
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Hepatitis, Bloody diarrhea,... ORPHA:436252
Atelosteogenesis Type Ii
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Pulmonary hypoplasia, Protuberant... ORPHA:56304
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Inguinal hernia, Long philtrum OMIM:614052
Hajdu-Cheney Syndrome
Inguinal hernia, Intestinal malrotation, Abnormality of the dentition, Open bite, Cleft palate, D... ORPHA:955
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Elevated alkaline phosphatase of bone origin, Generalized aminoaciduri... ORPHA:289157
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... OMIM:610829
Frontorhiny
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Bifid tongue, Cleft palate ORPHA:391474
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate OMIM:271225
X-Linked Acrogigantism
Diastema, Abdominal distention, Polyphagia ORPHA:300373
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Thin vermilion border OMIM:602557
Meester-Loeys Syndrome
Gingival overgrowth, High palate, Camptodactyly, Umbilical hernia, Joint contracture, Bifid uvula OMIM:300989
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Anal stenosis, Thin upper lip vermilion, Hypopl... OMIM:211380
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... ORPHA:79403
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Short lingual frenulum, Feeding difficulties, Widely spaced teeth,... OMIM:619479
Digeorge Syndrome
High, narrow palate, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Atelectasis, Cle... OMIM:188400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Pierre-Robin sequence, Cleft palate, Anterio... OMIM:217980
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Hiatus hernia, Pyl... ORPHA:3342
Weaver Syndrome
Inguinal hernia, Diastasis recti, Camptodactyly, Umbilical hernia, Joint contracture of the hand,... OMIM:277590
Juvenile Nephropathic Cystinosis
Poor appetite, Dehydration, Feeding difficulties, Vomiting, Polydipsia ORPHA:411634
Schimke Immunoosseous Dysplasia
Microdontia, Dyspnea, Pulmonary arterial hypertension, Protuberant abdomen OMIM:242900
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e... ORPHA:464
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis, Tachypnea, Orofacial cleft ORPHA:3427
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O... ORPHA:2753
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Narrow mouth, ... OMIM:617666
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic hernia, Wide mouth, Umbilical... OMIM:618846
Gapo Syndrome
High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Umbilical hernia OMIM:230740
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Tented upper lip vermilion, Dental crowding, Pleural effusion, High palate,... OMIM:620369
Dyggve-Melchior-Clausen Disease
Abnormal circulating enzyme concentration or activity, Hyperactivity, Respiratory insufficiency d... ORPHA:239
Shprintzen-Goldberg Syndrome
Inguinal hernia, Camptodactyly of finger, High, narrow palate, Aplasia/Hypoplasia of the abdomina... ORPHA:2462
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Arthrogryposis Multiplex Congenita 5
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Camptodactyly, Umbilical hernia,... OMIM:618947
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Thin upper lip vermilion, Scarring, Diastasis recti, Hiatus hernia, Intestinal malrotation, Narro... OMIM:601776
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... OMIM:617303
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Gingival fibromato... ORPHA:652
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... ORPHA:93259
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula, Spinal dysraphism OMIM:617660
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, High, narrow palate, High palate, Gastroe... OMIM:619472
Mucopolysaccharidosis Type 7
Umbilical hernia, Inguinal hernia ORPHA:584
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Upper airway obstruction ORPHA:93352
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cleft palate, Vomiting, Cough, Pulmonary edema ORPHA:137675
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Abnormality of the dentition, Hypoplasia of the maxilla, High palate, E... OMIM:608156
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia ORPHA:90673
Meier-Gorlin Syndrome 6
Umbilical hernia, Thick vermilion border, Cleft palate OMIM:616835
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Elevated circulating creatinine concentratio... OMIM:617478
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Inguinal hernia, Deep philtrum, Everted lower lip vermilion, High palat... OMIM:613884
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Umbilical hernia, Inguinal hernia, Esophagitis ORPHA:79351
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Aggressive behavior, Gastrointestinal dysmotility, Asthma, Nasal flarin... ORPHA:466943
Hajdu-Cheney Syndrome
Inguinal hernia, Intestinal malrotation, Dental malocclusion, High palate, Narrow mouth, Umbilica... OMIM:102500
Marshall-Smith Syndrome
Omphalocele, Eclabion, Irregular dentition, Short mandibular rami, Pyloric stenosis, Gingival ove... OMIM:602535
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Abnormal tongue... ORPHA:653
Menkes Disease
Inguinal hernia, Malabsorption, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical sc... ORPHA:565
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hepatic failure, Hepatitis ORPHA:292
Mucolipidosis Ii Alpha/Beta
Inguinal hernia, Diastasis recti, Myelopathy, Gingival overgrowth, Wide mouth, Macroglossia, Camp... OMIM:252500
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ... ORPHA:1519
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Pierre-Robin sequence, Cleft palate, Restrictive ventilatory defect, Bifid ... OMIM:183900
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Micrognathia, Feeding difficulties in infancy, Carious ... OMIM:223370
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... OMIM:619227
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia, Protuberant abdomen, Protruding tongue OMIM:200600
Arboleda-Tham Syndrome
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Recurrent respirat... OMIM:616268
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cleft soft palate, Aggressive behavior, Nasogastric tube feeding in infancy, Supernumerary tooth,... ORPHA:268261
Desmosterolosis
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Feeding difficul... ORPHA:35107
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Microglossia, Narrow mouth ORPHA:990
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Cleft palate ORPHA:2347
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Feeding difficulties in infancy, Cleft palate, Thick verm... OMIM:224690
Cranioectodermal Dysplasia 1
Recurrent respiratory infections, High, narrow palate, Ectodermal dysplasia, High palate, Widely ... OMIM:218330
Simpson-Golabi-Behmel Syndrome
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cleft upp... ORPHA:373
Pfeiffer Syndrome Type 3
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... ORPHA:93260
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Increased nuc... OMIM:215140
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal circulating enzyme concentration or activity, Epistaxis, Carious teeth, Diarrhea, Oral u... ORPHA:79259
Neu-Laxova Syndrome
Abnormality of the philtrum, Polyhydramnios, Micrognathia, Trismus, Submucous cleft hard palate, ... ORPHA:2671
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Anorexia, Abdominal pain, Diarrhea, Vomiting, Respiratory ... ORPHA:79139
Dyskeratosis Congenita
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Hypoplasia of the maxilla, Cariou... ORPHA:1775
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla OMIM:167730
Microphthalmia With Limb Anomalies
Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxi... ORPHA:1106
Leptospirosis
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Jaundice, Diarrhea, Hepatiti... ORPHA:509
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula ORPHA:69085
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Dental c... OMIM:617402
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Narrow palate, High palate, Umbilical hernia, Tooth malposition, Flexi... OMIM:608328
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Inguinal hernia, Carious teeth, Flexion contracture, Cervical myelopat... OMIM:253200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Umbilical hernia, Long philtrum, Thin upper lip vermilion, Hiatus hernia OMIM:610199
Trichothiodystrophy
Multiple joint contractures, Carious teeth, High, narrow palate, Absence of subcutaneous fat, Umb... ORPHA:33364
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation OMIM:218700
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Feeding difficulties, Pulmonary... OMIM:100800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, Wide mouth, Macroglossia, Widely spaced teeth, High palate, Microdontia,... OMIM:266920
Opsismodysplasia
Recurrent respiratory infections, Respiratory insufficiency, Protuberant abdomen, Long philtrum OMIM:258480
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Fetal ascites, Micrognathia, Deep philtrum, Facial erythe... OMIM:619503
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Abdominal pain, Hematemesis, Celiac disease, Jaundice,... OMIM:301068
Van Den Ende-Gupta Syndrome
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cleft palate, High... OMIM:600920
Liver Disease, Severe Congenital
Elevated hepatic transaminase, Chronic gastritis, Pneumonia, Intrahepatic cholestasis, Jaundice, ... OMIM:619991
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention ORPHA:309256
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar... OMIM:154500
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P... ORPHA:185
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Flexion contracture... OMIM:300166
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia OMIM:241200
Rubinstein-Taybi Syndrome 1
Dental crowding, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in... OMIM:180849
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Inguinal hernia, Short philtrum, Camptodactyly, Umbilical hernia, Joint... OMIM:611962
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Gastrointestinal stroma tumor, Feed... ORPHA:221
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea ORPHA:309031
Zttk Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Feeding difficulties in infancy, Chronic... OMIM:617140
Currarino Syndrome
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... OMIM:176450
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft palate, Open bite, Narrow palate ORPHA:794
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Respiratory distress, Pulmonary fibrosis OMIM:612852
Atelosteogenesis, Type I
Neonatal death, Protuberant abdomen, Stillbirth, Cleft palate OMIM:108720
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Vomiting, Cough, Ple... ORPHA:1546
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Increased nuchal translucency, Feeding difficulties, Hypoplasia of the... ORPHA:79345
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of the dentition, Malabsorption, Genital hernia, Cystocele, Aplasia/... ORPHA:285
Meier-Gorlin Syndrome 3
Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties, Gastroesophagea... OMIM:613803
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... ORPHA:97214
Ablepharon Macrostomia Syndrome
Omphalocele, Camptodactyly of finger, Wide mouth, Thin vermilion border, Microdontia, Umbilical h... ORPHA:920
Menke-Hennekam Syndrome 1
Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Deep philtrum, Flexion co... OMIM:618332
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Gingival ov... ORPHA:576
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition ORPHA:349
Osteogenesis Imperfecta, Type X
Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Dentinogenesis i... OMIM:613848
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Vomiting, Dehydration, Feeding difficulties ORPHA:168558
Aortic Arch Interruption
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Aortopulmonary window... ORPHA:2299
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Umbilical hernia, Thin lower lip vermilion ORPHA:221139
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate, Wide mouth, Gastroesophag... OMIM:300967
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Elevated circulating aspartate ami... OMIM:619534
Stickler Syndrome
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties ... ORPHA:828
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Vomiting, Dehydration, Feeding difficulties ORPHA:289548
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Cutis marmorata, Micrognathia, Malabsorption, Abnormali... ORPHA:235
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Long philtrum ORPHA:50810
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, F... OMIM:619194
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Duodenal ulcer, Intestinal ... OMIM:135900
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... OMIM:101800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of ... OMIM:604292
Focal Dermal Hypoplasia
Omphalocele, Delayed eruption of teeth, Inguinal hernia, Diastasis recti, Congenital diaphragmati... OMIM:305600
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Restlessness, Respiratory distress, Recurrent respiratory infectio... OMIM:615273
Aneurysm-Osteoarthritis Syndrome
Inguinal hernia, Camptodactyly of finger, Dental malocclusion, Cleft palate, Atypical scarring of... ORPHA:284984
Ogden Syndrome
Thin upper lip vermilion, Inguinal hernia, Everted upper lip vermilion, Abnormality of the dentit... OMIM:300855
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... OMIM:129900
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Umbilical hernia ORPHA:90674
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Dehydration, Dysphagia, Polydipsia, Exocrine pancreatic insufficiency OMIM:219800
Fraser Syndrome
Encephalocele, Omphalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, De... ORPHA:2052
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Pulmonary hypoplasia, Anal atresia OMIM:271520
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Diarrhea, Dehydration, Constipation, Vomiting OMIM:601678
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r... OMIM:616749
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Inguinal hernia, Aganglionic megacolon, Abnormality of the gingiva, An... ORPHA:798
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Carious teeth, S... OMIM:114290
Cardiofaciocutaneous Syndrome
Lymphedema, Feeding difficulties in infancy, Submucous cleft hard palate, Functional abnormality ... ORPHA:1340
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Jaundice, Diarrhea, Respiratory fai... ORPHA:533
Floating-Harbor Syndrome
Restlessness, Impulsivity, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth... ORPHA:2044
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Abnormality of Krebs cycle metabolism, Dyspnea, Episodic respiratory distress, Dysphagia, ... ORPHA:255210
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention ORPHA:309263
Poems Syndrome
Edema, Pericardial effusion, Acrocyanosis, Pleural effusion, Ascites ORPHA:2905
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Thick vermilion bo... OMIM:609460
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Dehydration, Feeding difficulties, Vomiting, Hypocapnia ORPHA:90794
Tetrasomy 9P
Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... ORPHA:3310
Doors Syndrome
Respiratory distress, Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentit... ORPHA:79500
Hyperparathyroidism, Transient Neonatal
Umbilical hernia, Inguinal hernia OMIM:618188
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Flexion contracture, Cleft upper lip OMIM:308050
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Bowel incontinence ORPHA:309271
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:99125
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Protruding tongue, Hypoplasia of t... OMIM:612289
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Dental crowding, Short ... ORPHA:740
Fanconi Anemia
Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, ... ORPHA:84
Bartter Syndrome Type 4
Dehydration, Vomiting, Polyhydramnios, Nasogastric tube feeding ORPHA:89938
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Inflammation of the large intestine, Oral ulcer, Protuberant abdomen OMIM:232220
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Progeroid facial appearance, Thick lower lip vermilion, Erythema, ... OMIM:256040
3Mc Syndrome 2
Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, High pa... OMIM:265050
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflu... OMIM:301043
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Naus... ORPHA:287
Biotinidase Deficiency
Respiratory distress, Decreased circulating biotinidase concentration, Apnea, Hyperventilation ORPHA:79241
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Stridor, Macroglossia, Thick vermilion bo... ORPHA:505248
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Dehydration ORPHA:99885
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Gastroin... ORPHA:48435
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... ORPHA:210122
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... ORPHA:805
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Tooth malposition, Narrow palate OMIM:277600
Wrinkly Skin Syndrome
Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, High palate, Small, con... ORPHA:2834
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Pericardial effusion,... OMIM:139210
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Delayed eruption of primary teeth, High, nar... OMIM:119600
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, narrow palate, Submucou... ORPHA:2658
Alpha-Mannosidosis, Infantile Form
Macroglossia, Umbilical hernia, Widely spaced teeth ORPHA:309282
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... OMIM:166250
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Umbilical hernia, Inguinal hernia, High palate ORPHA:536545
Acromesomelic Dysplasia 4
Umbilical hernia OMIM:619636
Multicentric Osteolysis, Nodulosis, And Arthropathy
Hypoplasia of the maxilla, Gingival overgrowth, Delayed eruption of teeth, Micrognathia OMIM:259600
Marden-Walker Syndrome
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Feeding difficulties, ... ORPHA:2461
Familial Dysautonomia
Recurrent respiratory infections, Abnormal pleura morphology, Feeding difficulties in infancy, Ga... ORPHA:1764
Blomstrand Lethal Chondrodysplasia
Natal tooth, Protruding tongue, Pulmonary hypoplasia, Protuberant abdomen, Long philtrum ORPHA:50945
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Feeding difficulties in infanc... ORPHA:50
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Large placenta, C... ORPHA:116
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Pyloric stenosis, Abdom... OMIM:235730
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Neonatal respiratory distress, Respiratory distress, Steatorrhea OMIM:260400
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Gingiv... ORPHA:217085
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Miscarriage, Polyhydramnios, Micrognathia, Hyp... ORPHA:96334
Aspartylglucosaminuria
Inguinal hernia, Abnormality of the dentition, Carious teeth, Malabsorption, Gingival overgrowth,... ORPHA:93
Neuroocular Syndrome
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... OMIM:619539
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Intermittent diarrhea, Protuberant abdomen OMIM:232200
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Abnormal dental morphology, Camptodactyly of finger, Flexion contracture, Gingiv... ORPHA:217093
Wrinkly Skin Syndrome
Delayed eruption of teeth, Inguinal hernia, Carious teeth, High palate, Long philtrum, Microdonti... OMIM:278250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Coffin-Lowry Syndrome
Mandibular prognathia, Cutis marmorata, Rectal prolapse, Thick lower lip vermilion, Dental malocc... OMIM:303600
Diamond-Blackfan Anemia 10
Respiratory distress, Cleft palate OMIM:613309
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Flexion contracture, Downturned corners of mouth, Smoo... OMIM:619321
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Cleft palate ORPHA:1934
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Hepatic failure, Poor suck OMIM:614886
Mucopolysaccharidosis Type 2
Inguinal hernia, Gingival overgrowth, Contractures of the large joints, Macroglossia, Thick vermi... ORPHA:580
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Peters Plus Syndrome
Intestinal fistula, Inguinal hernia, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upp... ORPHA:709
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmo... ORPHA:500150
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... OMIM:608594
Diamond-Blackfan Anemia
Nonimmune hydrops fetalis, Cleft soft palate, Micrognathia, Cleft lip, High palate, Adenocarcinom... ORPHA:124
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Carpenter Syndrome 2
Carious teeth, High, narrow palate, Dental malocclusion, Narrow palate, Knee flexion contracture,... OMIM:614976
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Esophageal atresia, Abdominal distention, Respiratory insufficiency, Ectopic anu... ORPHA:93271
Plague
Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis... ORPHA:707
Floating-Harbor Syndrome
Thin upper lip vermilion, Inguinal hernia, Celiac disease, Carious teeth, Downturned corners of m... OMIM:136140
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hem... OMIM:600001
Bartsocas-Papas Syndrome 1
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Oral synec... OMIM:263650
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hern... OMIM:312870
Restrictive Dermopathy 1
Natal tooth, Prominent superficial blood vessels, Polyhydramnios, Micrognathia, Submucous cleft h... OMIM:275210
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Posteriorly placed anus, Total anomalous... OMIM:306955
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Osteogenesis Imperfecta
Delayed eruption of teeth, Inguinal hernia, Abnormality of dental color, Intestinal obstruction, ... ORPHA:666
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Polyhydramnios, Micrognathia, Submucous cleft hard palate, Feeding difficulties, Neoplasm of the ... ORPHA:3047
Primary Hyperoxaluria
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... ORPHA:416
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Diastasis recti, Bilateral cleft lip, Cleft upp... OMIM:261540
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Long philtrum, Neo... OMIM:619124
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Prominent umbilicus, Lipodystrophy, Reduced intraabdominal a... OMIM:269700
Loeys-Dietz Syndrome 2
Inguinal hernia, Eosinophilic infiltration of the esophagus, Cleft palate, Camptodactyly, Umbilic... OMIM:610168
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... OMIM:180500
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla ORPHA:2399
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Hypoplasia of... ORPHA:306542
Leprechaunism
Reduced subcutaneous adipose tissue, Abdominal distention, Rectal prolapse, Megarectum, Thick ver... ORPHA:508
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Thin upper lip vermilion, Hyperactivity, Respiratory distress, Feedi... ORPHA:508488
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Feeding difficulties in infancy, Attention deficit hyperactivity disorder, Submucous cleft hard p... OMIM:618891
Loeys-Dietz Syndrome 3
Inguinal hernia, Eosinophilic infiltration of the esophagus, Cystocele, Dental malocclusion, Clef... OMIM:613795
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Thin upper lip vermilion, High palate, Long philtrum, Umbilical hernia, Bifid uvula OMIM:620330
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Williams Syndrome
Rectal prolapse, Microdontia, Spina bifida occulta, Abnormal dental morphology, Abnormal dental e... ORPHA:904
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Premature loss of primary teeth, Microdontia, Abnormality of the dentition, High... ORPHA:286
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Umbilical hernia ORPHA:226307
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Umbilical hernia OMIM:618164
Pallister-Hall Syndrome
Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogryp... ORPHA:672
Coccidioidomycosis
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... ORPHA:228123
Pyknoachondrogenesis
Abdominal distention, Abnormality of mouth shape ORPHA:3003
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Constipat... OMIM:157170
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Monosomy 22Q13.3
Umbilical hernia, Dental crowding, Dental malocclusion ORPHA:48652
Omodysplasia 1
Umbilical hernia, Long philtrum OMIM:258315
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Abnormality of the dentition, Feeding difficulties in infancy, Asthm... ORPHA:3206
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Gingival overgrowth... ORPHA:480880
Primrose Syndrome
Restlessness, Aggressive behavior, Hypoplasia of the maxilla, Abnormal repetitive mannerisms, Thi... OMIM:259050
Gitelman Syndrome
Nausea and vomiting, Respiratory distress, Salt craving, Abdominal pain, Diarrhea, Constipation, ... ORPHA:358
Cardiac Diverticulum
Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti ORPHA:1686
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pyloric stenosis, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Gastros... ORPHA:83617
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Vomiting... ORPHA:2152
Cardiac Valvular Dysplasia 1
Cyanosis, Hydrops fetalis, Edema OMIM:212093
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal dental enamel morphology, Dyspnea, Erythema, Feeding difficulties,... ORPHA:2556
Chromosome 1P36 Deletion Syndrome, Distal
Cleft upper lip, Feeding difficulties in infancy, Aggressive behavior, Self-mutilation, Submucous... OMIM:607872
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Spina bifida, Cleft palate, Narrow mouth, Umbilical hernia OMIM:304120
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Umbilical hernia, Hernia, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2255
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... ORPHA:261537
Williams-Beuren Syndrome
Colonic diverticula, Inguinal hernia, Celiac disease, Rectal prolapse, Flexion contracture, Thick... OMIM:194050
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Pleural eff... OMIM:182250
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Aganglionic megacolon, Cleft palate, Umbilical hernia OMIM:308205
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Natal tooth, Prominent scalp veins, Thin upper lip vermilion... ORPHA:3455
Generalized Arterial Calcification Of Infancy
Cyanosis, Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Feeding difficulties, Vom... ORPHA:51608
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening OMIM:101400
Charge Syndrome
Omphalocele, Anal stenosis, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft... OMIM:214800
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac... OMIM:601803
Atresia Of Urethra
Abdominal distention ORPHA:105
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... OMIM:617088
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, High palate, Oligohydramnios, Micrognathia OMIM:614437
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Abnormal repetitive ma... ORPHA:261552
Coffin-Siris Syndrome 12
Micrognathia, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Feeding ... OMIM:619325
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Pulm... ORPHA:3404
Cohen-Gibson Syndrome
Umbilical hernia, Flexion contracture, Camptodactyly OMIM:617561
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Large placenta, Submucous clef... ORPHA:1662
Aicardi Syndrome
Cleft upper lip, Prominence of the premaxilla, Cleft palate, Hiatus hernia OMIM:304050
Sotos Syndrome
Hip contracture, Inguinal hernia, Aganglionic megacolon, Ankle flexion contracture, Abnormality o... ORPHA:821
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Malar flattening... ORPHA:2636
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Protuberant abdomen OMIM:618019
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Rectovaginal fistula, Umbilical ... OMIM:107480
Isolated Arrhinia
Respiratory distress ORPHA:1134
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mouth, Branchial ano... OMIM:164210
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Nasogastric tube feeding in infancy, Recurrent pneumonia, Feeding difficult... ORPHA:99646
Alström Syndrome
Elevated hepatic transaminase, Respiratory distress, Abnormality of dental color, Dorsocervical f... ORPHA:64
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Pmm2-Cdg
Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Abnormal subcutane... ORPHA:79318
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gad1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gad1.

No publications found that use IMPC mice or data for Gad1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gad1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gad1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter